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In Depth Tutorials and Information
TABLE 13.1
Positions and Consequences of Known mutations in the C-Propeptides of the Pro-α1(i) Chain
CP III
Equivalent
Exon
Mutation (protein level)
Mutation Type
OI Type
Ref.
49
p.(Ala1218Thr)
Missense
OI I + HBM
39
a
49
p.(Ala1218Valfs*21)
Frameshift
OI I
49
p.(Asp1219_Ala1221del)
In-frame deletion
OI III
40
49
p.(Asp1219Asn)
Missense
1 (Asp)
OI I + HBM
41
49
p.(Asp1219Glu)
Missense
1 (Asp)
OI I
42
49
p.(Thr1234Hisfs*28)
Frameshift
OI I
b
b
49
p.(Ser1247Argfs*82)
Frameshift
OI I
b
49
p.(Ala1256Profs*75)
Frameshift
OI I
49
p.(Ala1256Thr)
Missense
38 (Ala)
OI I
43
49
p.(Asp1261Alafs*66)
Frameshift
OI I
30
a
49
p.(Leu1262Arg)
Missense
44 (Leu)
OI II
49
p.[(Met1264Val),(Met1264Glufs*59)]
Other
OI/ EDS
44
b
49
p.(Asp1268Glyfs*62)
Frameshift
OI I
42 a
49
p.(Trp1269*)
Nonsense
OI IV
b
50
p.(Gly1272Val)
Missense
OI IV
a
50
p.(Trp1275*)
Nonsense
OI IV
b
50
p.(Trp1275Arg)
Missense
OI III/IV
50
p.(Asp1277His)
Missense
59 (Asp)
OI II
45
50
p.(Asp1277Glu)
Missense
59 (Asp)
OI II
46
a
50
p.(Gln1280*)
Nonsense
OI I
b
50
p.(Ala1286Asp)
Missense
OI IV
50
p.(Cys1299*)
Nonsense
OI I
b
50
p.(Cys1299Trp)
Missense
81 (Cys)
OI I
47
50
p.(Gln1304*)
Nonsense
OI I
48
50
p.(Gln1309*)
Nonsense
OI I
a
a
50
p.(Trp1312*)
Nonsense
OI
50
p.(Trp1312Cys)
Missense
94 (Trp)
OI II
49
50
p.(His1323Tyr)
Missense
104 (His)
OI I
40
50
p.(Val1324Cysfs*105)
Frameshift
OI II
50
50
p.(Trp1325*)
Nonsense
OI I
51,52
b
50
p.(Ser1329Argfs*2)
Frameshift
OI I
51
p.(Glu1337_Tyr1338del)
In-frame deletion
OI II
45
a
51
p.(Gly1340Ser)
Missense
121 (Asn)
OI I
51
p.(Leu1352*)
Nonsense
OI I
42
51
p.(Arg1356His)
Missense
137 (Arg)
OI II/III
a
a
51
p.(Glu1361Lys)
Missense
142 (Arg)
OI IV
b
51
p.(His1369Thrfs*58)
Frameshift
OI II
51
p.(Ala1387Val)
Missense
168 (Ala)
OI IIC
53
51
p.(Leu1388Arg)
Missense
169 (Leu)
OI II
45
( Continued )
 
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